Allele Registry

Canonical Allele Identifier: PA645434394

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

273804

ClinVar RCV:

RCV000340331

RCV000559325

ClinVar Variation:

289567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ala904Val	CA10072985 NM_001849.4:c.2711C>T